Canonical Allele Identifier: CA137481

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45976
• ClinVar RCV Id: RCV000039211 ; RCV000124201 ; RCV001104090 ; RCV001274892 ; RCV001533705 ; RCV002504904
• dbSNP Id: rs74145660
• ExAC: 10:73544093 C / G
• gnomAD v2: 10-73544093-C-G
• gnomAD v3: 10-71784336-C-G
• gnomAD v4: 10-71784336-C-G
• COSMIC: COSM3675833
• MyVariant Identifiers: chr10:g.73544093C>G (hg19) ; chr10:g.71784336C>G (hg38)
• PubMed: PMID:16679490 ; PMID:17850630

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784336C>G , CM000672.2:g.71784336C>G	GRCh38
NC_000010.10:g.73544093C>G , CM000672.1:g.73544093C>G	GRCh37
NC_000010.9:g.73214099C>G	NCBI36
NG_008835.1:g.392390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5418C>G MANE Select	ENSP00000224721.9:p.Asp1806Glu
ENST00000224721.10:c.5433C>G	ENSP00000224721.8:p.Asp1811Glu
ENST00000622827.4:c.5418C>G	ENSP00000483211.1:p.Asp1806Glu
NM_022124.5:c.5418C>G	NP_071407.4:p.Asp1806Glu
XM_006717940.2:c.5613C>G	XP_006718003.1:p.Asp1871Glu
XM_006717942.2:c.5547C>G	XP_006718005.1:p.Asp1849Glu
XM_011540039.1:c.5610C>G	XP_011538341.1:p.Asp1870Glu
XM_011540040.1:c.5607C>G	XP_011538342.1:p.Asp1869Glu
XM_011540041.1:c.5553C>G	XP_011538343.1:p.Asp1851Glu
XM_011540042.1:c.5613C>G	XP_011538344.1:p.Asp1871Glu
XM_011540043.1:c.5613C>G	XP_011538345.1:p.Asp1871Glu
XM_011540044.1:c.5478C>G	XP_011538346.1:p.Asp1826Glu
XM_011540045.1:c.5613C>G	XP_011538347.1:p.Asp1871Glu
XM_011540046.1:c.5073C>G	XP_011538348.1:p.Asp1691Glu
XM_011540047.1:c.4431C>G	XP_011538349.1:p.Asp1477Glu
XM_011540048.1:c.5613C>G	XP_011538350.1:p.Asp1871Glu
XM_011540049.1:c.5613C>G	XP_011538351.1:p.Asp1871Glu
XM_011540050.1:c.5613C>G	XP_011538352.1:p.Asp1871Glu
XM_011540051.1:c.5613C>G	XP_011538353.1:p.Asp1871Glu
XM_011540052.1:c.1941C>G	XP_011538354.1:p.Asp647Glu
XM_011540053.1:c.5613C>G	XP_011538355.1:p.Asp1871Glu
XR_945796.1:n.5856C>G
NM_022124.6:c.5418C>G MANE Select	NP_071407.4:p.Asp1806Glu